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New global initiative launched to address genetic blood disorders

Kuala Lumpur, 17 March 2015—Patients with one of a number of devastating genetic blood disorders, such as thalassemia and sickle cell anaemia, will benefit significantly in the coming years from a new international project announced today at the annual Human Genome Organisation meeting in Kuala Lumpur. The Global Globin 2020 Challenge (GG2020), an initiative of the Human Variome Project—an international scientific NGO working with UNESCO and WHO to build medical genetics and genomics capacity, particularly in low- and middle-income countries—will apply recent developments in human genomics involving the systematic collection and sharing of genetic variation data to fighting these blood disorders, referred to technically as haemolytic anaemias.

In particular, the Challenge will build an evidence base for the better management of delivery of local treatment, care and eventually cure for these diseases by ensuring that there is sufficient local capacity to deliver services. It is believed that the Challenge will put in place the skills and expertise in genomic medicine needed to effectively tackle other health issues in these countries as well.The Challenge is being led by two leading geneticists, Professor Zilfalil bin Alwi from Malaysia and Professor Raj Ramesar from South Africa. Both are members of the Human Variome Project Board and can see the benefits this project will bring to their patients and others in South East Asia, Africa and the rest of the world.

Human Variome Project International (HVPI) Chairman, Chris Arnold, who chaired the HUGO session introducing the project, thanked the GG2020 challenge co–chairs and fellow HVPI directors, Professor Zilfalil Bin Alwi, from Universitie Sains Malaysia and Professor Raj Ramesar from the University of Cape Town South Africa for their leadership and willingness to coordinate this major global initiative. Mr Arnold stated “The haemolytic anaemias collectively, are cause for significant morbidity and mortality, especially in parts of the world where health systems are often less well developed. Children are often most severely affected. Despite much being known for a long time about the genetics and biology of the haemolytic anaemias and this knowledge being used successfully in some countries to systematically reduce burden of disease, low- and middle-income countries have remained practically untouched by this knowledge and innovations.”

In launching the Challenge, Professor bin Alwi said, “The Malaysian Node of Human Variome Project is honoured to be given the privilege to co-chair this Global Globin Initiative. Hemoglobinopathy, in particular Thalassaemia, is a common disease in Malaysia where about 5% of the population are carriers of the disease".

Helen Robinson, a global health consultant from the Nossal Institute for Global Health at the University of Melbourne who worked on the development of the Project for the Human Variome Project said, “Commitment to systematic variant data collection is increasing, but this is occurring mostly in high income countries where much of the diagnosis and testing takes place. There is a risk that countries where the burden of these diseases is highest—low- and middle-income countries—are being left behind in a form of ‘genomic divide.’ The capacity to generate quality data on variants, to store it so that it can be shared internationally needs to be built in these countries. ”

ENDS

About the Human Variome Project

The Human Variome Project is an international consortium of heath care professionals, researchers and policy makers that are committed to the idea of free and open sharing of genomic variation information. Our members come from over 80 countries and from every region of the world. Individually and together, they are working to establish the standards, systems and infrastructure to ensure that the knowledge and insights into our genome gained in their own countries are shared in a responsible manner with every other country.

The Human Variome Project acts as an umbrella organisation across multiple countries, institutions and initiatives. It works to encourage communication and collaboration around it central vision—the improvement of global health through the sharing of genomic knowledge.